GENETIC CHANGE

INQUIRY QUESTION 1: HOW DOES MUTATION INTRODUCE NEW ALLELES INTO

THE POPULATION

6.1.1 EXPLAIN HOW A RANGE OF MUTAGENS OPERATE, INCLUDING BUT NOT

LIMITED TO:

MUTATIONS: permanent changes in the sequence of nucleotides in DNA.

o May be spontaneous (cell division) or consequence of environment (e.g. smoke)

o May alter genetic sequence of a gene and create new alleles, altering amino acid sequence of
polypeptide chain and thus impacting protein’s functionality.
o They can alter final protein gene expression.
o May result in beneficial/harmful or no change in phenotype.

Spontaneous: include DNA replication errors during interphase of mitosis and meiosis that are not corrected
by repair enzymes, natural chemical degradation or unequal crossing over.

MUTAGENS: any environmental

agents that alter DNA, causing
mutation:

o Chemical (tar,
preservatives)
o Physical (radiation)
o Biological (virus)

ELECTROMAGNETIC RADIATION SOURCES

X rays and UV radiation induce mutation dye to their high ionising ability. They have the ability to remove
electrons, when wavelength decreases, frequency and energy increases of E-M waves.

o Radiation possesses enough energy to push electrons out of atoms in DNA, damaging molecule.

NON-IONISING RADIATION
 o Radiation produced by Electromagnetic waves with longer wavelengths (microwaves and infrared)
which have less energy and thus less potential to cause harm.
o UV is the point of shift, certain UV waves are non-ionising, relating to premature aging.

UV radiation : can cause two adjacent base (T) pairs to form covalent bonds with each other resulting in a
dimer structure. As a result, the DNA double helix structure is distorted at the position of the dimer. The
dimer molecule is not replicated by DNA polymerase during DNA replication (prematurely stops) and
thus no nucleotides are paired with the T bases. Thus altering mRNA sequence and affecting protein.
Often repair enzymes can fix such links, however excessive exposure to UV radiation can affect critical
genes ( e.g. tumour suppressor gene — skin cancer).

CHEMICALS

Chemicals that cause mutations if exposed to for long periods of time at high frequencies.

INGESTED: alcohol(hydrocarbons), cigarette smoke, preservatives.

ENVIRONMENTAL: pesticides, lead

o Often similar in structure to DNA, they can be mistakenly incorporated in DNA replication, distorting
double helix at that position, resulting in incorrect pairing of bases, causing issues with protein
synthesis.

NATURALLY OCCURRING MUTAGENS

Occur in nature at normal levels that would cause mutations. Likelihood of mutations increases as levels of
mutagen increases. 2 types:

BIOLOGICAL

o Small number of microbes can cause mutations in human genes, including viruses and bacteria e.g
HIV / HPV
o Some retroviruses insert their DNA in host chromosomes.
 o Some mutagens are formed by fungi, or plant or animal cells during metabolism of certain
substances.
o Transposons: short segments of DNA that spontaneously fragment and move around human
genome, disrupting protein synthesis if entering gene segment causing frameshift mutations→
causing cancers. E.g haemophilia.

EFFECTS: can insert their own base DNA and change functioning of genes and trigger cancers, some bacteria
and/or their products can cause inflammation, during which free radicals (reactive oxygen species) are
produced, causing DNA damage and reducing efficiency of DNA repair systems.

NON-BIOLOGICAL (PHYSICAL)

o Includes electromagnetic radiation, however not all is harmful to human cells.

o Metals such as mercury and cadium

6.1.2 COMPARE THE CAUSES, PROCESSES AND EFFECTS OF DIFFERENT TYPES OF

MUTATION

POINT MUTATION

Occur along DNA and only impact small number of nucleotides.

SUBSTITUTION

One base is replicated wrong:

SILENT: do not cause change in amino acid due to multiple codons coding for the same amino acid.

MISSENSE: alter one amino acid (e.g. sickle cell, where the haemoglobin round shape is changed to a rod

shape, resulting in
sickle red blood cells,
where it’s shape can
block narrow blood
vessels lowering oxygen
carried to cells.)

NONSENSE: creates

premature STOP codon

→ short protein → non-
functional. E.g. cystic
fibrosis
FRAMESHIFT MUTATION

Small change in nucleic sequence

where a nucleotide is added/deleted,
impacting following codons and amino
acid.

INSERTION/DELETION: base is added

or deleted and causes major change.

INVERSION

2 bases swapped.

CHROMOSOMAL MUTATION

Occurring during meiosis, impacting large sections of DNA (entire chromosome) and can be lethal.

Duplication: portion is duplicated

Deletion: section of DNA thus

genes are removed (often due
to heat or radiation).

Inversion: segment removed,

flipped and replicated

Translocation: section of DNA

moved to non-homologous
chromosome. E.g. 4 → 20

WHOLE CHROMOSOME MUTATIONS

Issue is in entire chromosome, can be identified with karyotype.

ANEUPLOIDY: abnormal number of chromosomes, (extra one or

missing one). E.g. Down Syndrome: 47 chromosomes

POLYPLOIDY: extra complete sets of chromosomes. fatal to

humans.

Causes of chromosomal mutations:

6.1.3 DISTINGUISH BETWEEN SOMATIC MUTATIONS AND GERM -LINE MUTATIONS
AND THEIR EFFECT ON AN ORGANISM

Somatic Germline

Occur in haploid gametes due to meiosis and can be

Occur in diploid body cells at some stage of life and
passed to offspring.
thus cannot be inherited.

Effect: minimal or no effect on organism as only in

Most have no effect but mitosis can result In the
gametes.
spread of mutation.

When mutated gamete fuses with another,

Effect: somatic mutations spread via mitosis and
mutation is replicated in every cell of zygote,
thus, affected area may experience a change in
affecting child entirely. Both somatic and gamete
phenotype
cells of offspring will carry mutation, thus mutation
E.g. mutation on tumour suppressor gene → cluster
can pass to next generation as well.
of mutated cells → cancer —> visible abnormalities
on skin e.g. Down Syndrome

6.1.4 ASSESS THE SIGNIFICANCE OF ‘CODING’ AND ‘NON -CODING’ DNA SEGMENTS
IN THE PROCESS OF MUTATION

o Most of human DNA is not used for protein synthesis (Junk DNA)
o Changes in Coding Regions: mRNA → amino acid → polypeptide → change in phenotype
o Non-coding regions: large TE content
EXONS: lengths of DNA that carry a gene that codes for polypeptide synthesis. Mutations here affect

polypeptide synthesis and thus can affect amino acid and protein, and alter phenotype.

INTRONS: do not code for amino acid or polypeptide.

o They regulate mRNA production and tRNA, controlling gene expression.

o Have promoter and terminator regions that switch on and off genes.
o Mutations here can affect phenotype (under/over-expressing gene)
o Regulate transcription and translation.
o Error – severe – e.g. cystic fibrosis (nonsense mutation)

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6.1.5 INVESTIGATE THE CAUSES OF GENETIC VARIATION RELATING TO THE

PROCESSES OF FERTILISATION, MEIOSIS AND MUTATION \

FERTILISATION: 2 haploid cells fuse, potentially increasing alleles for particular gene, since the sperm and
egg that fuse are random, thus increase in genetic variation.

MUTATION: altered DNA can result in a change in amino acid → change in polypeptide → new alleles
introduced → increase in variation.

MEIOSIS:

1. crossing over during prophase increases variation

2. independent assortment of homologous chromosomes in metaphase → increase in variation.
3. Random segregation when chromosomes are randomly separated increases variation.

MUTATION: CHROMOSOMAL ERROR:

o Errors in crossing over: DNA to be

exchanged may be inverted before
inserted on arm of chromatid →
inversion mutation, or chromosome may
break → deletion mutations.
o Non disjunction: failure of one or more
pairs of chromosomes/sister chromatids
to separate in nuclear division →
abnormal number of chromosomes.

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6.1.6 EVALUATE THE EFFECT OF MUTATION, GENE FLOW AND GENETIC DRIFT ON
THE GENE POOL OF POPULATIONS

GENE POOL: total combination of genes and alleles in reproducing species.

Mutations:

o Create new alleles.

o Simply increase gene pool if they are beneficial.
o If lethal, natural selection will take its course and gene will be removed from population.

GENE FLOW: Passing genetic material between populations due to emigration and immigration →
increasing genetic variation in different areas.

GENETIC DRIFT: random change in allele frequency due to events of chance which reduce genetic variation:
Natural disasters (bottleneck effect)

ISOLATION (FOUNDER EFFECT) : separation/migration of species from population to another location. The
new population may have different allele frequencies and lower genetic variation compared to OLD
population.
 o Much larger effect on small populations compared to large as the percentage decrease of allele
frequencies is larger.,

INQUIRY QUESTION 2: HOW DO GENETIC TECHNIQUES AFFECT EARTH’S

BIODIVERSITY?

6.2.1 INVESTIGATE THE USES AND APPLICATIONS OF BIOTECHNOLOGY (PAST,

PRESENT AND FUTURE), INCLUDING:

PAST : used natural products to improve living, targeted food production, medicine and selective breeding.

o e.g. crossbreeding of dogs to produce specialised traits for herding and hunting
o Medicine; usage of plants, e.g. turmeric as an anti-inflammatory, penicillium fungus as
antibacterial.

PRESENT: DNA manipulation, DNA analysis and biofuels, transgenic, recombinant DNA tech..

FUTURE: cloning, gene therapy.

ANALYSING THE SOCIAL IMPLICATIONS AND ETHICAL USES OF BIOTECHNOLOGY,

INCLUDING PLANT AND ANIMAL EXAMPLES

SOCIAL IMPLICATIONS: o Medicine and health benefits?

o Poverty, yield?
o Fair access?
Discrimination?
o Bias of population?
o Economical/ money benefits? ETHICAL:
 o “Playing God” o Animal rights
o Religion o Privacy and freedom
o Disrupting nature o culture

PLANT EXAMPLE : Bt cotton uses bacterium toxin gene to provide immunity to pests, decreasing

biodiversity:

o Ethical implications: killing animals and disrupting nature.

o Social Implications: less waste of crop, higher yield, profitable for farmers.

Insertion of genes that specify the production of vitamin C and E in tomatoes to help reduce the risk of
developing heart disease in people (Social implication).

ANIMAL EXAMPLE: some cows have mutation that allows for unregulated muscle growth, which have
been shaved by farmers resulting in artificial selection where Humans are selective pressure.

o Ethical Implication: pain to cows, disrupting nature, taking advantage of animals.

o Social implications: people want to buy, thus profitable for farmers.
o

RESEARCHING FUTURE DIRECTIONS OF THE USE OF BIOTECHNOLOGY

RECOMBINANT TECHNOLOGY: introduction of genetic material into an organism, e.g. BT is pest resistant.

(Explained in gene cloning)

Genetically modified organisms: organisms with their DNA modified due to mutations (spontaneous)
induced. E.g. corn, maize, cotton, watermelon.

Transgenic species: An organism whose genome has been altered by introduction of foreign DNA from
another species. E.g.

o jellyfish bioluminescence gene placed in rabbit embryo producing glow in the dark rabbits.
o beneficial to track movement of cells and provide evidence of technique working for
future projects.
o Transfer of artic fish anti-freeze protein into strawberries to increase frost-resistance and
maintain quality of fruit.

EVALUATING THE POTENTIAL BENEFITS FOR SOCIETY OF RESEARCH USING GENETIC

TECHNOLOGIES
Genetic technologies have benefits to society:

o Gene therapy to treat fatal diseases and save lives.

o GM foods to alleviate hunger of poor communities by decreasing cost of producing crop
o Biofuels for sustainability and renewability
o Prediction of disease in offspring through DNA sequencing,
o Gene therapy on individual germ-line cells to cure diseases and disorders, removing health disparities
between different ethnic groups. .

EVALUATING THE CHANGES TO THE EARTH’S BIODIVERSITY DUE TO GENETIC

TECHNIQUES

Short term: new gene combinations thus biodiversity increases

Long term: selective breeding of specific genes thus biodiversity decrease.

INQUIRY QUESTION 3: DOES ARTIFICIAL MANIPULATION OF DNA HAVE THE

POTENTIAL TO CHANGE POPULATIONS FOREVER?

6.3.1 INVESTIGATE THE USES AND ADVANTAGES OF CURRENT GENETIC

TECHNOLOGIES THAT INDUCE GENETIC CHANGE

Hybridisation: the process of interbreeding of two different strains(different groups of organisms within a
species group) of plant or animal to produce hybrid offspring that have the favourable characteristics of both
parents.

E.g. Hybrid sheep derived from a Australian merino sheep and a border Leicester ram is able to produce
quality meat and wool. However, the merino sheep’s provide quality wool and not meat and vice verse for
boarder Leicester rams. Interbreeding of two allows hybrid offspring to carry both favourable traits.

o Increases genetic variation.

Transgenesis as well (recombinant tech)

6.3.2COMPARE THE PROCESSES AND OUTCOMES OF REPRODUCTIVE

TECHNOLOGIES, INCLUDING BUT NOT LIMITED TO:

ARTIFICIAL INSEMINATION ARTIFICIAL POLLINATION

 Involved selectively introducing pollen from one plant
Involves collecting sperm from several males and to another.
injecting it into several females’ uterus via an
artificial insemination gun, producing offspring Pollen is taken from stamen with desired traits and

with desired traits. dusted onto sticky stigma of another plant

Semen of males with desired traits is also often - Hand: manual transferring using brush

frozen and stored. - Mechanical: spraying large amounts of pollen

over crops

o Reduces genetic variation.

o Ethically questionable: playing god o Can create hybrids: short lived increase in
biodiversity
o Reduction of unwanted pregnancies in
o Long term reduced biodiversity as undesired
animals
traits are not bred.
o Large-scale therefore can revive
o Wasteful when mechanical method used.
endangered species
o Time consuming when hand method used.
o Large scale may also be
o Large scale may also be detrimental if the
detrimental if the semen
parent plants contains a deadly germ line
contains a deadly germ line
mutation.
mutation..
o Semen storing is cost-effective

In-vitro fertilisation:

o Fertilising eggs in artificially created external environment, with the most viable zygote implanted in
the female uterus.
o Process:
1. Removal of multiple eggs from female
2. Fertilisation
3. Incubation (development to embryo)
4. If successful, implanted in female or frozen.
o Effects:
o Possible reduction in genetic diversity as most favoured embryo is used.
o Sperm banks may result in donors of favourable genes chosen (height etc.) reducing
diversity and potentially losing important alleles ( like flu resistance)
o Infertility is being bred into population, when it would naturally disappear.
▪ Ethical: choosing child if testing of embryos are done, playing god
▪ Social: expensive, favours richer population.
6.3.3 INVESTIGATE AND ASSESS THE EFFECTIVENESS OF CLONING, INCLUDING
BUT NOT LIMITED TO:

WHOLE ORGANISM CLONING

Producing genetically identical copy of a whole organism. E.g. dolly the sheep.

Process: Somatic cell nuclear transfer:

1. Somatic diploid cell was taken from sheep to be cloned and cell’s nucleus was isolated.
2. A healthy egg was taken from another sheep and its haploid nucleus was removed through
enucleation.
3. Somatic cell nucleus injected into enucleated egg to form fertilised diploid egg cell.
4. After growth and development, embryo was implanted into 3rd surrogate mother.

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Effectiveness:

o If there is a mutation in the somatic cell, it is passed onto offspring therefore not strictly identical
organism.
o Lowers genetic diversity.
o Ethical issues
o Expensive and time consuming
o Mitochondrial DNA in cytoplasm of donor egg will be passed to offspring.
o Cloning can allow replication of organisms with favourable characteristics at large scale. ( higher
yield of products and thus lower cost to consumers).

Process 2: artificial embryo splitting

1. Splitting embryo unto multiple group of cells shortly after fertilisation and before cells become
specialised.
2. The embryonic cells are then implanted into surrogate mothers.

Effectiveness:

o Uncomplicated and inexpensive → effective.

o Mimics the process of forming twins.

GENE CLONING
Occurs at cellular level, involving producing copies of one gene. Uses Recombinant genetic technology to
remove gene from source and insert in another organism.

Process:

1. extraction of DNA from source by cutting

using restriction enzymes which are enzymes
produced by bacteria.
2. Gene is pasted into vector DNA or plasmid by
process called ligation.
3. Ligase enzymes used to join DNA fragments.
4. Plasmid containing gene is introduced into
host gene by process called transformation
and it replicates
5. Host cell now replicates it when it replicates
it’s own DNA.

Uses: research, gene therapy, sequencing, e.g. insulin cloning for diabetic patients.

Effectiveness: fast and cheap, gene must be located using others methods first, ethical issues including
potential transfer of allergens.

Polymerase chain reaction: placing DNA sequence of desired gene into thermal cycled machine to make
multiple copies of gene.

6.3.4 DESCRIBE TECHNIQUES AND APPLICATIONS USED IN RECOMBINANT DNA

TECHNOLOGY, FOR EXAMPLE:

THE DEVELOPMENT OF TRANSGENIC ORGANISMS IN AGRICULTURAL AND MEDICAL

APPLICATIONS
This includes using transgenic rabbits by inserting a sequence of DNA containing a gene in jellyfish that has
green fluorescent property alongside other genes to examine whether the desired genes are successfully
expressed.

6.3.5 EVALUATE THE BENEFITS OF USING GENETIC TECHNOLOGIES IN

AGRICULTURAL, MEDICAL AND INDUSTRIAL APPLICATIONS

AGRICULTURE:

Technique: selective breeding, artificial pollination and transgenics.

Benefit: produce crops and animals suited to unfavourable conditions, enhance nutritional value and taste of
food, and forming resistance to pests and herbicides, increased efficiency of food production.

MEDICAL:

Technique: gene cutting, sequencing, gene therapy, artificial insemination, ivf

Benefit: personalised medicine for effective treatment, cloning helps treat diseases like Alzheimer’s and
Parkinson’s, production of medicines artificially and allowing for mass production and replicating one’s in
body, e.g. insulin, overcome fertility issues

INDUSTRIAL:

Technique: gene cloning, transgenics

Benefits: creation of GM organism that may have significance in industry, e.g. biofuels, GM potatoes contain
starch used in textiles.

6.3.6 EVALUATE THE EFFECT ON BIODIVERSITY OF USING BIOTECHNOLOGY IN

AGRICULTURE

o Cloning: creates identical individuals and thus reduces biodiversity.

o Artificial insemination: temporarily increase biodiversity, revive endangered species but long-term
decrease in biodiversity (same with transgenics and artificial pollination).

6.3.7 INTERPRET A RANGE OF SECONDARY SOURCES TO ASSESS THE INFLUENCE

OF SOCIAL, ECONOMIC AND CULTURALCONTEXTS ON A RANGE OF
BIOTECHNOLOGIES

o Assess validity, reliability and accuracy of source.

o Social → human rights, sustainability, benefit to humanity. Area where science is widely accepted
enables use of biotech.
o Economic → financial cost and benefits, wealthier countries can afford to purchase and sustain
biotech.
o Cultural → religious opinion and difference of opinion, biotech use will be more prevalent in areas not
governed by religion.